Congenital hydrocephaly

Severe heritable protein C (PC) deficiency is quite rare, although heterozygous PROC mutation is the second leading cause of genetic predisposition to thrombosis in Japanese adults. The aim of the study was to search the optimal management, the paediatric onset and outcomes of PC deficiency were characterized in Japan. The genetic study, postmarketing survey of activated PC(aPC) concentrate (Anact(®)C) and intensive review in Japan for 20 years enabled the analysis of the disease onset, genotype, treatment and prognosis...

OBJECTIVE: The aim of the study was to document the neuroimaging findings of children with infantile spasms (IS) seen over a 3-year period. METHODS: All children below the age of 4 years who presented to the Pediatric Department at the Northern Area Armed Forces Hospital, Hafr Al-Batin, Kingdom of Saudi Arabia from January 1, 1998 to December 31, 2000 with a history of seizures, atypical movements, psychomotor delay, flexor, extensor spasms or both were included in the study...

BACKGROUND: To determine the prevalence and characteristics of birth defects in perinatal infants in Hubei Province during 200l-2008. METHODS: The prevalence of birth defects in perinatal infants delivered after 28 weeks or more was analyzed in Hubei surveillance hospitals during 200l-2008. RESULTS: The incidence of birth defects in perinatal infants from 200l to 2008 was 120.0 per 10,000 births, and was increased by about 41% from 81. 1 in 2001 to 138...

The aim of this study was to document some epidemiological features of termination of pregnancy for birth defects in Iran. We studied 603 pregnant women who were diagnosed/recommended for the termination of pregnancy as having a fetus with some types of birth defect(s). Most women (87.2 percent) had at least one ultrasound examination. The proportion of other screening tests including amniocentesis and genetic tests were 2.8 and 4.6 percent, respectively. Of 603 women, 201 terminated the pregnancy giving a prevalence rate of 33...

BACKGROUND: Although associations between maternal parity and birth defects have been observed previously, few studies have focused on the possibility that parity is an independent risk factor for birth defects. We investigated the relation between levels of parity and a range of birth defects, adjusting each defect group for the same covariates. METHODS: We included infants who had an estimated delivery date between 1997 and 2007 and participated in the National Birth Defects Prevention Study, a multisite case-control study...

UNLABELLED: Holoprosencephaly (HPE) is a congenital central nervous system malformation estimated to occur in 1/250 conceptuses and 1/10,000 live births. While the severe forms, which are incompatible with life, are easier to detect in the prenatal period, the milder forms can remain unrecognised. As this can have serious consequences for the pregnancy and malformation carriers it is of crucial importance to find ways of timely detection of this pathological condition. The present study AIMED at finding an association of holoprosencephaly with facial dysmorphia and anomalies of visceral organs that would alert the physician to be very careful in making the prenatal diagnosis, which may require termination of pregnancy by medical indications...

The aim of this study was to evaluate the impact of folic acid use in pregnancy for the reduction of neural tube defects (NTDs) in the northwest region of Iran. We studied 243 women with pregnancies complicated by some forms of birth defect(s). These patients were identified by medical diagnostic tests as having a fetus with some types of congenital anomalies. The prevalence of NTDs among pregnant women who were referred for therapeutic termination of pregnancy was 24.7 percent. Consumption of folic acid prevented NTDs by 79 percent (Odds Ratio = 0...

Basically Chiari type III malformation is a combination of encephalocele with of brain stem and cerebellar abnormality. Although Klippel-Feil syndrome may be associated with other congenital anomalies, this syndrome is mainly associated with varying degrees of cervical vertebral fusion anomalies. In this study, we reported the association of Chiari type III malformation and Klippel-Feil syndrome with the mirror movement by imaging studies. The main involvement in Chiari type III malformation and Klippel-Feil syndrome is in the craniocervical junction...

OBJECTIVES: To review the normal and pathological development of the posterior membranous area (PMA) in the fetal brain, to define sonographic criteria with which to diagnose a Blake's pouch cyst (BPC) in the fetus and to review the ultrasound features, associations and outcome of 19 cases of BPC seen at our center over the last 5 years. METHODS: We conducted a MEDLINE search using the terms 'Blake's pouch', with or without 'fourth ventricle' or '4(th) ventricle', with or without 'roof' and identified articles describing normal and/or abnormal development of the PMA, whether or not they were cited in the limited clinical literature on BPC...

OBJECTIVE: To describe brain imaging findings and outcomes in fetuses with confirmed congenital toxoplasmosis (CTX). METHODS: Physicians from Prenatal Diagnosis Units in ten Latin American countries were contacted and asked to provide data on fetuses with ultrasound findings suggestive of intrauterine infection and a positive diagnosis of CTX. The imaging studies were reviewed, and findings were described and tabulated. RESULTS: Intracranial findings suggestive of CTX were identified in eight patients at a median gestational age of 31...

OBJECTIVE: To describe the patterns of cesarean section (CS) and vaginal delivery by type of birth defect and determine whether prenatal diagnosis predicts a higher or lower likelihood of CS for selected defect categories. METHODS: Data from a large population-based registry were analyzed to determine percentages of vaginal versus CS delivery for each of 49 categories of birth defects. Odds ratios and statistical significance were computed to determine if a record of prenatal diagnosis (PND) predicted delivery mode...

X-linked hydrocephaly (Li Syndrome) is a rare cause of hydrocephaly. It is, however, the most common genetic form of congenital hydrocephaly and consists of the association of hydrocephaly, mental retardation, leg spasticity and adducted thumbs. The phenotype is variable. A mutation of the LICAM gene is known to be the aetiology of the syndrome. We present an antenatal case managed in our department.

OBJECTIVE: Cervical spinal dysraphism is a rare congenital spinal pathology. The results obtained from our series are compared with the results obtained from other series of studies in the literature. METHODS: Seven patients with cervical myelomeningocele and meningocele who underwent surgery between January 1996 and March 2009 at the YYU Faculty of Medicine in the Department of Neurosurgery were retrospectively studied. RESULTS: The referral ages of the patients (6 females and 1 male) varied between 4 days and 4 months (median 1 month)...

The aim of this study was to evaluate the incidence of and mortality due to meningitis and compare data according to microbiological diagnosis. This was a ten-year retrospective study conducted at a neonatal intensive care unit (NICU). Newborns with meningitis confirmed by positive CSF culture were included; those with congenital infection or malformations that made lumbar puncture impossible were excluded. The variables investigated were birth weight, gestational and postnatal age, procedures, hematological and CSF parameters, and complications...

Tribenoside is used for the treatment of haemorrhoids and varicose veins, frequently in pregnant women as well, but published data regarding its possible teratogenic effect are not available. Thus the risk of congenital abnormalities (CAs) was estimated in cases of pregnant women with oral tribenoside treatment (TT) in the Hungarian Case-Control Surveillance System of Congenital Abnormalities. Of 22,843 cases with CA, 174 (0.76%), while of 38,151 matched controls without CA, 285 (0.75%) were born to mothers with TT...

Among nosocomial infections in the newborns, the incidence of fungal infections has been rising over the last decades. Fluconazole has been a new option for treatment however, expanded use of the drug brought up the development of resistance. In this study, species of the Candida isolates from neonates with candida infections, their antifungal susceptibilities and the effectiveness of the therapy were evaluated. All the species of Candida isolates from blood, urine and sterile body fluids of 54 neonates and their antifungal susceptibilities were evaluated retrospectively over the 13-year period...

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BACKGROUND: An encephalocele is a herniation of the brain and the meninges through a skull defect protruding towards the exterior. The condition is not rare when compared to spinal dysraphisms, but the worldwide incidence is not precisely known. The cases involving occipital encephaloceles which we have diagnosed in our clinic and the surgical approaches for this rare condition are presented herein. METHODS: Thirty patients who were diagnosed with occipital encephaloceles and referred to our Neurosurgery Clinic at the Yuzuncu Yil University, Faculty of Medicine Research Hospital between 2000 and 2009 were enrolled in this study...

OBJECTIVE: To determine the prevalence of termination of pregnancy for fetal anomaly (TOPFA) after 23 weeks of gestation in European countries, and describe the spectrum of anomalies for which late TOPFA is recorded. DESIGN: Population-based study. SETTING: Twelve European countries. POPULATION: Nineteen registries of congenital anomaly in 12 European countries between 2000 and 2005. The number of total births covered was 2 695 832...

OBJECTIVE: To provide evidence for more accurate diagnosis of birth defects based on the pathoanatomy of congenital malformations. METHODS: Data used in this study were obtained from Luliang City Hospital and three county hospitals of Shanxi province between February 2004 and March 2006. Autopsy and pathological examination of 160 dead fetuses and stillbirths were performed. Photos of dead fetuses and stillbirths were taken, tissues were cut into sections for pathological examination under microscope, all pathological information was recorded, and percentage of birth defects was calculated...